Linked Data
ClinVar Variation Id:
218736
ClinVar RCV Id:
RCV000202930
dbSNP Id:
rs72609545
ExAC:
X:6451929 C / T
gnomAD v2:
X-6451929-C-T
gnomAD v3:
X-6533888-C-T
gnomAD v4:
X-6533888-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.6533888C>T , CM000685.2:g.6533888C>T | GRCh38 |
| NC_000023.10:g.6451929C>T , CM000685.1:g.6451929C>T | GRCh37 |
| NC_000023.9:g.6461929C>T | NCBI36 |
| NG_011539.1:g.6231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381089.7:c.418G>A MANE Select | ENSP00000370479.3:p.Val140Met | |
| ENST00000398729.1:c.358G>A | ENSP00000381713.1:p.Val120Met | |
| ENST00000612369.4:c.374+44G>A | ENSP00000478811.1:n.374+44G>A | |
| NM_016379.3:c.418G>A | NP_057463.2:p.Val140Met | |
| XM_006724494.2:c.358G>A | XP_006724557.1:p.Val120Met | |
| NM_016379.4:c.418G>A MANE Select | NP_057463.2:p.Val140Met |